How do I explain when I can't explain why? Logic, science, and genetics seem so cold right now. The family must know. More lives upended. "What do you mean?" Explanations. Questions. More explanations. Mother: "It was probably me."

Thanks for your comment. I suppose the point I was trying to make with this post was that sometimes our "cool cases" aren't so cool for the patient when the diagnosis is realized. It really doesn't matter what the case is about.

But for the non-medicos, the patient presented with the first EKG of wide complex tachycardia to our ER. Our first job was to decipher the cause. The EKG has clues (RBBB, RAD, VA dissociation) that confirmed the CAUSE to be VENTRICULAR TACYCARDIA - a rapid heart rhythm from the lower main pumping chambers of the heart.

The next EKG was obtained after Amiodarone bolus was administered by the ER staff (which did nothing) and subsequent procainamide bolus (that terminated the ventricular tachycardia and restored normal rhythm). But the follow-up EKG was unusual: it was wider than normal too - the thought of WPW (as wealthandtaste suggested) came across our minds too.... hmmm - maybe we could fix this, we thought... until the echo was obtained... and showed marked LV wall thickness and mid-cavitary obstruction consistent with a genetically-inherited disorder of the heart muscle: hypertrophic cardiomyopathy.

The cardiac MRI was obtained to evaluate the extent of the muscle involvement, and to further eval the concern of a possible apical clot. In this image, blood/fluid is whiter and the tissues black in color - a very tiny area of darkness was seen at the tip of the left ventricle, too (seen better in some other images) confirming the apical thrombus - also the near-hourglass constriction of the midcavitary blood within the left ventricle is clearly seen.

The patient underwent angiography to evaluate for coronary artery disease (none found) and ICD implantation to protect against further arrhythmias. Beta blockers and warfarin (a blood thinner) were initiated. All of these really aren't curative, but palliative in this young patient with a wife, young kids, and parents.

All were there to share and grieve.

Hypertrophic cardiomyopathy is inherited as an autosomal dominant trait (half of family members are affected) and is attributed to mutations in one of a number of genes that encode for one of the heart muscle (sarcomere) proteins. Approximately 45% of these mutations occur in the β myosin heavy chain gene on chromosome 14 q11.2-3) while approximately 35% involve the cardiac myosin binding protein C gene. The prognosis is variable, based on the gene mutation. In individuals without a family history of hypertrophic cardiomyopathy, the most common cause of the disease is a de novo mutation of the gene that produces the β-myosin heavy chain.

No family history of sudden death existed at the time of this case's diagnosis.

You make an excellent point, Wes. Sometimes we get so caught up in the "cool case" that we lose sight of how terrible it is to BE the cool case. When my wife was pregnant with twins, she was hospitalized for 5 weeks with preterm labor. One of the twins had a double bubble on antenatal ultrasound, making them a "cool case." Of course, we didn't think it was so cool....

This would not qualify as a "cool case" I don't think, but when my daughter was 8 we discovered she had heterozygous familial hypercholesterolemia. My husband's mother, maternal uncle, and maternal grandfather had had early heart attacks but we had not known the cause until my daughter was diagnosed. Although my husband must have the mutation, his LDL is only slightly elevated, which I'm told is called "incomplete penetrance." To this day, my mother-in-law gets very upset when the subject comes up: "Why do you think this is from me? What's a mutation? You blame me for this, don't you?" etc. She also refuses to let us notify the daughter of her late brother, who died of a heart attack at 40.

Marilyn,You raise what I think is a really important point about genetic testing. One of the issues that doesn't get discussed often enough is the issue of blame. There is a legitimate concern in the genetic testing world that people will either feel guilty ("It's my fault my child has this disease") or ascribe blame ("You did this to me!"). Of course, neither is justified. We don't choose our genes. And this is not a reason to oppose genetic testing, but it does point to a reason that not just anyone should send, and then report back to the patient, genetic tests. There are many dimensions to the results that need to be discussed, blame and guilt among them.

About Me

Westby G. Fisher, MD, FACC is a board certified internist, cardiologist, and cardiac electrophysiologist (doctor specializing in heart rhythm disorders) practicing at NorthShore University HealthSystem in Evanston, IL, USA and is a Clinical Associate Professor of Medicine at University of Chicago's Pritzker School of Medicine. He entered the blog-o-sphere in November, 2005.
DISCLAIMER: The opinions expressed in this blog are strictly the those of the author(s) and should not be construed as the opinion(s) or policy(ies) of NorthShore University HealthSystem, nor recommendations for your care or anyone else's. Please seek professional guidance instead.